Gaucher disease is an inherited deficiency of the lysosomal enzyme acid β-glucosidase (glucocerebrosidase, GBA1), which results in the accumulation of glucocerebroside within lysosomes of macrophages1

What is Gaucher?

Gaucher disease is classified into three types, which make a phenotypic continuum ranging from mild to severe nervous symptoms.2,3

The classic categories of types 1, 2 and 3 have blurred edges along the continuum of the disease.

Adapted from Sidransky E, Gaucher disease: complexity in a "simple" disorder.

Type 1
Non neuronopathic
Type 2
Acute neuronopathic
Type 3
Chronic neuronopathic
Prevalence4,5 1:50,000 - 1:100,000
(pan-ethnic) 1:850
(Ashkenazi Jews)
< 1:150,000 (pan-ethnic)
Age at presentation4,5 Any Infancy Childhood
Lifespan4,5 Variable < 2 y < 40 y
Primary CNS disease4,5 None Severe Mild to severe
Hepatosplenomegaly4,5 Mild to severe Moderate to severe Mild to severe
Haematologic abnormalities4,5 Mild to severe Severe Mild to severe
Osseous symptoms4,5 Mild to severe None Mild to moderate

What to look out for

The journey to diagnosis can be a challenge. However, there are some key symptoms and signs to look out for:2

General symptoms: Fatigue
Easy bruising/bleeding Decreased appetite
Menorrhagia Abdominal pain

Image adapted from Charrow J et al. Clin Genet. 2007;71(3):215-211

Splenomegaly and thrombocytopenia are two of the most common signs of Gaucher

Acute lymphoblastic leukaemia6,7 Chronic myeloid leukaemia8-10 Gaucher disease Hairy cell leukaemia11,12 Multiple myeloma13,14 Myelofibrosis15,16 Non-Hodgkin lymphoma17,18
Age of onset
Children under 5
Adults ~60
~50 0-80 ~50 65-70 >50 ~70
Bone pain
Splenomegaly Less common
Hepatomegaly Less common
Growth retardation/
delayed puberty
N/A N/A N/A N/A N/A No
Gaucher cells
on biopsy
Sometimes pseudo-Gaucher cells19 Sometimes pseudo-Gaucher cells20 Occurs in clusters21 N/A Sometimes pseudo-Gaucher cells22 Sometimes pseudo-Gaucher cells29 Sometimes pseudo-Gaucher cells24

When considering patients with these symptoms, where
malignancy has been ruled out, think Gaucher disease.


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1. Motta I et al, Eur J of Haematol, 2015;96:352-359
2. Charrow J et al. Clin Genet. 2007;71(3):215-211
3. Sidranksy E et al. Gaucher disease clinical presentation. Updated Aug 18, 206 http// Accessed March 2019
4. Niederau, C: Gaucher Disease 3rd edition. Bremen: Uni-Med, 2017
5. Mistry PK, et al. Am J of Hematol 2010;86(1):110–5
6. Hoffman R et al. Hematology: basic principles and practise, 6th edition. Philadelphia, PA: Saunders, an imprint of.;Elsevier inc.;2013
7. O’Donnell M. Acute Leukemia Jun 1 2016 Accessed March 2019
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11. National Cancer Institute website. http// Accessed March 2019
12. Hair Cell Leukemia facts (FS16). Leukaemia & Lymphoma Society. White Plains
13. Al Farsi K. Oman Med J. 2013;28(1):3-11
14. Shah D. Multiple Myeloma Clinical Presentation. Updated: Jan 11, 2018 Accessed March 2019
15. Myelofibrosis facts (FS14). Leukaemia & Lymphoma Society. White Plains, NY;October 2013
16. Tefferi A. Am J Hematol. 2013;88(2:141-150
17. National Cancer institute website. Adult Non-Hodgkin Lymphoma Treatment (PDQ) – Patient Version Accessed March 2019
18. Shankland KR et al. Lancet. 2012;380(9844):848-857
19. Knox-Macauley et al. South Med J. 1997 Jan;90(1):69-71
20. Busche G et al. Virchows Arch. 1997 Feb;430(2):139-48
21. William L Simpson et al. World J Radiol 2014 September 28;6(9):657-668
22. Scullin DC Jr et al. Am J Med. 1979 Aug;67(2):347-52
23. Eric Lang M.D et al. Diagn. Cytopathol.1999;20:379-381
24. Renato Alterini et al. Haematologica.1996;81:282-283